I139N (p.Ile139Asn) variant of GJA1 (Gap junction alpha-1 protein)
I139N (p.Ile139Asn) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
I139N (p.Ile139Asn) variant details
- p.Ile139Asn
- rs2114283459
- ClinGen CA365558963
- ClinVar RCV001775339
- Ensembl rs2114283459
- Likely pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.76
- MetaLR 0.68
- MetaSVM 0.40
- PolyPhen-2 0.44
- SIFT 0.00
- EVE 0.29
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available